46, XY Female Karyotype Containing SRY

Female with 46, XY karyotype

Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare c...

A female with 46,XY Disorder of Sexual Development with normal SRY gene sequence: A case report

Background: Disorders of sex development (DSD) are a medical condition that affects the normal process of sexual  Various of the genes needed for gonad development have been identified by investigation of patients with disorders sex development (DSD).Phenotypes of patients with 46,XY DSD range from atonalism in female phenotype with complete external  genitalia to male phenotype with testicular...

The craniofacial complex in karyotype 46,XY females.

The craniofacial cephalometric dimensions, angles and dimensional ratios of five Finnish individuals with complete testicular feminization (CTF) were compared with their first-degree relatives and population female and male controls. The linear and angular measurements were made from standardized lateral cephalograms of patients and normal population controls from the 'Kvantti Study' series. Th...

A prisoner with an unusual karyotype (46,XY,Dq-).

Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype.

Primary amenorrhea due to 46,XY disorders of sexual development (DSD) is complex with the involvement of several genes. Karyotyping of such patients is important as they may develop dysgerminoma and molecular analysis is important to identify the underlying mechanism and explore the cascade of events occurring during sexual development. The present study was undertaken for the genetic analysis ...